Mutagenetix > Incidental Mutation

Incidental Mutation 'R7120:Ugt1a2'

551904

Institutional Source

Beutler Lab

Gene Symbol

Ugt1a2

Ensembl Gene

ENSMUSG00000090171

Gene Name

UDP glucuronosyltransferase 1 family, polypeptide A2

Synonyms

MMRRC Submission

045209-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R7120 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88128323-88146719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88128522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 55 (H55R)

Ref Sequence

ENSEMBL: ENSMUSP00000037258 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014263] [ENSMUST00000049289] [ENSMUST00000058237] [ENSMUST00000073772] [ENSMUST00000097659] [ENSMUST00000113134] [ENSMUST00000113135] [ENSMUST00000113137] [ENSMUST00000113138] [ENSMUST00000113139] [ENSMUST00000113142] [ENSMUST00000119972] [ENSMUST00000126203] [ENSMUST00000138182] [ENSMUST00000140092] [ENSMUST00000150634] [ENSMUST00000173325]

AlphaFold

P70691

Predicted Effect

probably benign
Transcript: ENSMUST00000014263

SMART Domains

Protein: ENSMUSP00000014263
Gene: ENSMUSG00000054545

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:UDPGT	27	522	1.2e-229	PFAM
Pfam:Glyco_tran_28_C	363	448	1e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000049289
AA Change: H55R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037258
Gene: ENSMUSG00000090171
AA Change: H55R

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:UDPGT	28	524	2.2e-247	PFAM
Pfam:Glyco_tran_28_C	363	452	4.5e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000058237

SMART Domains

Protein: ENSMUSP00000058683
Gene: ENSMUSG00000090124

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	522	1.5e-234	PFAM
Pfam:Glyco_tran_28_C	361	450	4.5e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000073772

SMART Domains

Protein: ENSMUSP00000073444
Gene: ENSMUSG00000090175

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:UDPGT	24	519	2.3e-232	PFAM
Pfam:Glyco_tran_28_C	358	447	4.5e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097659

SMART Domains

Protein: ENSMUSP00000095263
Gene: ENSMUSG00000089943

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:UDPGT	25	520	6.7e-246	PFAM
Pfam:Glyco_tran_28_C	359	448	1.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113134

SMART Domains

Protein: ENSMUSP00000108759
Gene: ENSMUSG00000054545

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:UDPGT	27	522	2.7e-232	PFAM
Pfam:Glyco_tran_28_C	361	450	4.5e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113135

SMART Domains

Protein: ENSMUSP00000108760
Gene: ENSMUSG00000090124

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:UDPGT	27	522	1.2e-229	PFAM
Pfam:Glyco_tran_28_C	363	448	1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113137

SMART Domains

Protein: ENSMUSP00000108762
Gene: ENSMUSG00000090145

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:UDPGT	27	522	1.3e-231	PFAM
Pfam:Glyco_tran_28_C	361	450	2.8e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113138

SMART Domains

Protein: ENSMUSP00000108763
Gene: ENSMUSG00000090145

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:UDPGT	27	522	7.3e-229	PFAM
Pfam:Glyco_tran_28_C	363	448	6.6e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113139

SMART Domains

Protein: ENSMUSP00000108764
Gene: ENSMUSG00000089675

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	521	3.6e-237	PFAM
Pfam:Glyco_tran_28_C	360	449	1.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113142

SMART Domains

Protein: ENSMUSP00000108767
Gene: ENSMUSG00000090165

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	521	7.3e-231	PFAM
Pfam:Glyco_tran_28_C	360	449	1.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119972

SMART Domains

Protein: ENSMUSP00000112703
Gene: ENSMUSG00000081984

Domain	Start	End	E-Value	Type
DnaJ	2	61	6.22e-33	SMART
low complexity region	69	81	N/A	INTRINSIC
low complexity region	104	119	N/A	INTRINSIC
low complexity region	126	138	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126203

SMART Domains

Protein: ENSMUSP00000116653
Gene: ENSMUSG00000090124

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	62	4.6e-11	PFAM
Pfam:UDPGT	59	127	8.9e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138182

SMART Domains

Protein: ENSMUSP00000119985
Gene: ENSMUSG00000090165

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	62	7e-11	PFAM
Pfam:UDPGT	58	207	1.9e-90	PFAM
Pfam:Glyco_tran_28_C	137	207	4.8e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140092

SMART Domains

Protein: ENSMUSP00000115642
Gene: ENSMUSG00000054545

Domain	Start	End	E-Value	Type
Pfam:UDPGT	1	166	9.3e-98	PFAM
Pfam:Glyco_tran_28_C	96	166	4.9e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150634

SMART Domains

Protein: ENSMUSP00000123452
Gene: ENSMUSG00000090124

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	62	9.5e-11	PFAM
Pfam:UDPGT	58	207	2e-90	PFAM
Pfam:Glyco_tran_28_C	137	207	4.8e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173325

SMART Domains

Protein: ENSMUSP00000134443
Gene: ENSMUSG00000090165

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	61	3.4e-10	PFAM
Pfam:UDPGT	59	210	8.9e-92	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. Substrates of this enzyme include estrone, 2-hydroxyestrone, and metabolites of benzo alpha-pyrene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	A	T	3: 36,536,016 (GRCm39)	Q94L	unknown	Het
4933411K16Rik	C	T	19: 42,041,112 (GRCm39)	A81V	probably benign	Het
Actr3	A	C	1: 125,331,169 (GRCm39)	Y273*	probably null	Het
Aoc1	T	A	6: 48,883,531 (GRCm39)	I469N	probably damaging	Het
Arhgef28	A	T	13: 98,081,047 (GRCm39)	L1270Q	probably damaging	Het
Atp2c1	G	A	9: 105,297,385 (GRCm39)	Q780*	probably null	Het
Bbs10	T	C	10: 111,135,310 (GRCm39)	V141A	possibly damaging	Het
Bivm	A	T	1: 44,165,606 (GRCm39)	T19S	probably benign	Het
Cacna1h	T	G	17: 25,610,481 (GRCm39)	H675P	probably benign	Het
Cadps	T	A	14: 12,439,919 (GRCm38)	L1204F	probably damaging	Het
Cald1	T	C	6: 34,663,011 (GRCm39)		probably null	Het
Calr	A	G	8: 85,569,457 (GRCm39)	M357T	probably damaging	Het
Ccni	A	T	5: 93,331,190 (GRCm39)	Y260*	probably null	Het
Csrnp3	C	A	2: 65,853,354 (GRCm39)	T594K	probably damaging	Het
Dek	A	T	13: 47,253,659 (GRCm39)	M152K	unknown	Het
Depdc1b	T	C	13: 108,498,781 (GRCm39)	W155R	probably benign	Het
Ehd1	A	G	19: 6,347,591 (GRCm39)	K315R	probably benign	Het
Epn3	C	A	11: 94,383,254 (GRCm39)	R323S	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fbxo10	T	A	4: 45,040,533 (GRCm39)	K891*	probably null	Het
Fras1	G	T	5: 96,900,819 (GRCm39)	G3013*	probably null	Het
Gbp2b	A	G	3: 142,312,507 (GRCm39)	T297A	probably benign	Het
Gbp7	T	C	3: 142,249,734 (GRCm39)	S402P	probably damaging	Het
Gclc	T	C	9: 77,694,032 (GRCm39)	Y329H	probably damaging	Het
Gfpt1	A	G	6: 87,064,375 (GRCm39)	H655R	probably benign	Het
Gm4787	C	A	12: 81,425,260 (GRCm39)	M299I	probably benign	Het
Grb7	C	A	11: 98,345,817 (GRCm39)	R532S	probably benign	Het
Hmcn1	A	T	1: 150,576,292 (GRCm39)	I2066N	probably damaging	Het
Hnrnpll	T	C	17: 80,341,486 (GRCm39)	T518A	probably benign	Het
Hps3	G	A	3: 20,065,705 (GRCm39)	R712W	probably damaging	Het
Hspd1	A	G	1: 55,118,388 (GRCm39)	V406A	probably benign	Het
Igkv2-112	T	C	6: 68,197,510 (GRCm39)	F61L	probably benign	Het
Iqcf5	G	A	9: 106,392,995 (GRCm39)	R84H	probably damaging	Het
Itgad	T	A	7: 127,773,146 (GRCm39)	M1K	probably null	Het
Kmt2d	A	G	15: 98,758,946 (GRCm39)	S1292P	unknown	Het
Macc1	C	A	12: 119,409,480 (GRCm39)	Q83K	possibly damaging	Het
Map3k4	G	T	17: 12,490,354 (GRCm39)	A359E	probably damaging	Het
Mfap3	T	A	11: 57,419,043 (GRCm39)	C68S	probably damaging	Het
Mipep	C	T	14: 61,112,696 (GRCm39)	R660C	possibly damaging	Het
Morc2b	A	T	17: 33,354,787 (GRCm39)	L995Q	probably damaging	Het
Mrc1	A	G	2: 14,313,508 (GRCm39)	N913S	probably damaging	Het
N4bp1	C	A	8: 87,587,495 (GRCm39)	C481F	probably benign	Het
Nae1	A	G	8: 105,252,910 (GRCm39)		probably null	Het
Nup214	T	A	2: 31,941,054 (GRCm39)	V29E	probably benign	Het
Or1e30	A	T	11: 73,677,940 (GRCm39)	M59L	probably damaging	Het
Or8c11	T	C	9: 38,289,945 (GRCm39)	L250P	probably damaging	Het
Orai1	A	G	5: 123,167,535 (GRCm39)	E236G	possibly damaging	Het
P2rx7	A	G	5: 122,819,357 (GRCm39)	Y593C	probably benign	Het
Pcbp2	A	G	15: 102,383,113 (GRCm39)	D77G	possibly damaging	Het
Pcdha8	G	A	18: 37,126,840 (GRCm39)	V441M	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Plaa	A	G	4: 94,470,919 (GRCm39)	S406P	possibly damaging	Het
Plekhh1	C	A	12: 79,117,713 (GRCm39)	P903Q	probably benign	Het
Plekhh3	T	C	11: 101,059,064 (GRCm39)	E92G	probably damaging	Het
Ptpn9	T	C	9: 56,967,166 (GRCm39)	F463S	probably damaging	Het
Ptprn2	A	C	12: 116,835,676 (GRCm39)	E337A	probably benign	Het
Rubcn	C	T	16: 32,656,839 (GRCm39)	R527Q	probably damaging	Het
Samd3	C	T	10: 26,106,864 (GRCm39)	T73M	possibly damaging	Het
Sfxn4	T	A	19: 60,840,477 (GRCm39)	K173*	probably null	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Son	T	G	16: 91,467,414 (GRCm39)	N2258K	unknown	Het
Sspo	A	T	6: 48,442,505 (GRCm39)	H2000L	probably benign	Het
Syne1	C	T	10: 5,243,971 (GRCm39)	S2731N	probably benign	Het
Syt6	T	C	3: 103,494,673 (GRCm39)	Y213H	probably damaging	Het
Tkt	A	G	14: 30,281,779 (GRCm39)	N99S	probably benign	Het
Tlcd3b	T	C	7: 126,428,505 (GRCm39)	L221P	probably damaging	Het
Tmem258	G	A	19: 10,181,602 (GRCm39)		probably benign	Het
Tnks1bp1	T	C	2: 84,902,441 (GRCm39)	S1702P	probably damaging	Het
Tpte	A	G	8: 22,817,689 (GRCm39)	D225G	probably damaging	Het
Trak1	T	A	9: 121,289,564 (GRCm39)	F625L	probably benign	Het
Ttc33	G	T	15: 5,241,488 (GRCm39)	C77F	probably benign	Het
Vmn1r169	G	T	7: 23,277,444 (GRCm39)	V279L	probably benign	Het
Vmn2r25	T	C	6: 123,805,394 (GRCm39)	K488E	possibly damaging	Het
Vmn2r8	A	T	5: 108,956,504 (GRCm39)	D39E	possibly damaging	Het

Other mutations in Ugt1a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02148:Ugt1a2	APN	1	88,128,796 (GRCm39)	missense	probably damaging	1.00
R0680:Ugt1a2	UTSW	1	88,128,933 (GRCm39)	missense	probably damaging	1.00
R1770:Ugt1a2	UTSW	1	88,129,160 (GRCm39)	missense	probably benign	0.01
R2122:Ugt1a2	UTSW	1	88,128,735 (GRCm39)	missense	possibly damaging	0.89
R2511:Ugt1a2	UTSW	1	88,128,846 (GRCm39)	missense	probably damaging	1.00
R4890:Ugt1a2	UTSW	1	88,128,534 (GRCm39)	missense	probably damaging	0.99
R5485:Ugt1a2	UTSW	1	88,128,968 (GRCm39)	missense	probably damaging	0.96
R5603:Ugt1a2	UTSW	1	88,129,148 (GRCm39)	missense	probably damaging	1.00
R5827:Ugt1a2	UTSW	1	88,128,787 (GRCm39)	missense	probably damaging	0.99
R7070:Ugt1a2	UTSW	1	88,129,224 (GRCm39)	critical splice donor site	probably null
R7644:Ugt1a2	UTSW	1	88,128,507 (GRCm39)	missense	probably damaging	1.00
R8374:Ugt1a2	UTSW	1	88,129,107 (GRCm39)	missense	possibly damaging	0.51
R9202:Ugt1a2	UTSW	1	88,128,375 (GRCm39)	missense	probably benign	0.16
R9235:Ugt1a2	UTSW	1	88,128,488 (GRCm39)	missense	possibly damaging	0.82
R9402:Ugt1a2	UTSW	1	88,128,684 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- CCCTCAGCATTCAGGAGAAC -3'
(R):5'- TGGAATTCAGTTGCTGGATCAG -3'

Sequencing Primer
(F):5'- CTCAGCATTCAGGAGAACAGAACTTG -3'
(R):5'- CTGGATCAGCATCTTATTGTGC -3'

Posted On

2019-05-15